J Clin Neurol.  2016 Apr;12(2):181-187. 10.3988/jcn.2016.12.2.181.

Leigh Syndrome in Childhood: Neurologic Progression and Functional Outcome

• Lee JS
• Kim H
• Lim BC
• Hwang H
• Choi J
• Kim KJ
• Hwang YS
• Chae JH

• KMID: 2354138
• DOI: http://doi.org/10.3988/jcn.2016.12.2.181

Abstract

BACKGROUND AND PURPOSE
Few studies have analyzed the clinical course and functional outcome in Leigh syndrome (LS). The aim of this study was to determine the clinical, radiological, biochemical, and genetic features of patients with LS, and identify prognostic indicators of the disease progression and neurological outcome.
METHODS
Thirty-nine patients who had been diagnosed with LS at the Seoul National University Children's Hospital were included. Their medical records, neuroimaging findings, and histological/biochemical findings of skeletal muscle specimens were reviewed. Targeted sequencing of mitochondrial DNA was performed based on mitochondrial respiratory chain (MRC) enzyme defects.
RESULTS
Isolated complex I deficiency was the most frequently observed MRC defect (in 42% of 38 investigated patients). Mitochondrial DNA mutations were identified in 11 patients, of which 81.8% were MT-ND genes. The clinical outcome varied widely, from independent daily activity to severe disability. Poor functional outcomes and neurological deterioration were significantly associated with early onset (before an age of 1 year) and the presence of other lesions additional to basal ganglia involvement in the initial neuroimaging.
CONCLUSIONS
The neurological severity and outcome of LS may vary widely and be better than those predicted based on previous studies. We suggest that age at onset and initial neuroimaging findings are prognostic indicators in LS.

Keyword

Leigh syndrome; mitochondrial DNA mutation; functional outcome; prognostic indicators

MeSH Terms

Basal Ganglia
Disease Progression
DNA, Mitochondrial
Electron Transport
Humans
Leigh Disease*
Medical Records
Muscle, Skeletal
Neuroimaging
Seoul
DNA, Mitochondrial

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